ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6473G>A (p.Arg2158His)

gnomAD frequency: 0.00005  dbSNP: rs375859889
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254914 SCV000321495 uncertain significance not provided 2023-05-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001318521 SCV001509227 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-11-26 criteria provided, single submitter clinical testing

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